ClinVar Miner

List of variants in gene WDR34 reported as pathogenic for Short-rib thoracic dysplasia 11 with or without polydactyly

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_052844.3(WDR34):c.1022C>T (p.Ala341Val) rs587777091
NM_052844.3(WDR34):c.1061C>T (p.Thr354Met) rs587777092
NM_052844.3(WDR34):c.1177G>A (p.Gly393Ser) rs587777096
NM_052844.3(WDR34):c.1307A>G (p.Lys436Arg) rs587777098
NM_052844.3(WDR34):c.1312_1313del (p.Leu438fs)
NM_052844.3(WDR34):c.1339C>T (p.Arg447Trp) rs587777093
NM_052844.3(WDR34):c.1340G>A (p.Arg447Gln) rs587777094
NM_052844.3(WDR34):c.1539_1540CA[1] (p.Thr514fs) rs431905519
NM_052844.3(WDR34):c.26del (p.Pro9fs) rs763975565
NM_052844.3(WDR34):c.472C>T (p.Gln158Ter) rs587777097
NM_052844.3(WDR34):c.982-2A>C rs587777095

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.